Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation

IUBMB Life

Volumn 61, Issue 3, 2009, Pages 229-235

  Concolino, Paola ^a,b   Vendittelli, Francesca ^a   Mello, Enrica ^a   Alinovi, Cristiana Carelli ^a   Minucci, Angelo ^a   Carrozza, Cinzia ^a   Santini, Stefano Angelo ^b   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; CYP21A2; Novel mutations

Indexed keywords

CYTOCHROME P450 21A2; DEXAMETHASONE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN COS1; CONGENITAL ADRENAL HYPERPLASIA; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMUNOBLOTTING; IN VITRO STUDY; ITALY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN ANALYSIS;

MAMMALIA;

EID: 77951067049     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.147     Document Type: Article

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